Decoding Developmental Disorders in Humams, Devodecode

C19-64

The DEVO-DECODE project aims to align our currently limited knowledge currently limited knowledge of the genetic architecture of developmental with our more advanced knowledge of their "phenome". To this end, we aim to establish a homogeneous cohort of patients with with developmental disorders to identify new genetic variants genetic variants, and thus study the association between developmental and genetic variants. Secondary objectives are:2 * Carry out WGS studies not only to refine exosomal sequencing data exome sequencing data, but above all to identify and validate non-coding non-coding DNA alterations, in both transcribed and non-transcribed transcribed or non-transcribed genomic domains * Develop precise preclinical models for functional studies of pathophysiological pathways

2019-01-01

2024-01-01

2024-01-01

Completed

720

Inclusion Criteria: * Pediatric and adult patients with hereditary diseases and relatives who have consented to the storage of their biological samples in the Institut Imagine's declared biological collections. * Pediatric and adult patients with hereditary diseases and relatives who have been informed of the research project and who have not objected to the re-use of their data and biological samples samples Exclusion Criteria: -

{'studyType': 'OBSERVATIONAL', 'patientRegistry': False, 'designInfo': {'observationalModel': 'CASE_ONLY', 'timePerspective': 'RETROSPECTIVE'}, 'bioSpec': {'retention': 'SAMPLES_WITH_DNA', 'description': 'Whole genome sequencing (WGS) and bioinformatics analysis Functional validation Genome-Epigenome-Phenome Associations'}, 'enrollmentInfo': {'count': 720, 'type': 'ACTUAL'}}

2024-02-15